Ontology highlight
ABSTRACT:
SUBMITTER: Brady OA
PROVIDER: S-EPMC3554197 | biostudies-literature | 2013 Feb
REPOSITORIES: biostudies-literature
Brady Owen A OA Zheng Yanqiu Y Murphy Kira K Huang Marshall M Hu Fenghua F
Human molecular genetics 20121106 4
Haploinsufficiency of Progranulin (PGRN), a gene encoding a secreted glycoprotein, is a major cause of frontotemporal lobar degeneration with ubiquitin (FTLD-U) positive inclusions. Single nucleotide polymorphisms in the TMEM106B gene were recently discovered as a risk factor for FTLD-U, especially in patients with PGRN mutations. TMEM106B is also associated with cognitive impairment in amyotrophic lateral sclerosis patients. Despite these studies, little is known about TMEM106B at molecular and ...[more]